Hyun Min Kang

This study introduces a framework to integrate functional annotations with GWAS data to improve gene-based association analysis power and accuracy.

The paper identifies two types of eRNA QTLs associated with enhancer function and reveals a bipartite enhancer architecture through population-scale eRNA analysis.

The paper identifies eQTLs for ACE2 and TMPRSS2 in children's airway transcriptomes and links their expression to T2 inflammation and interferon responses, influencing SARS-CoV-2 infectivity.

This paper introduces a contamination estimation method that is agnostic to genetic ancestry, improving accuracy in DNA sample analysis.

This study identifies 147 genetic loci associated with eGFR, including 53 novel ones, and finds sex-specific effects on kidney function.

The paper identifies loss-of-function variants affecting liver-related blood traits that reduce CVD risk without increasing metabolic disease risk, highlighting potential therapeutic targets.

This study identifies 16 genome-wide significant loci associated with diabetic kidney disease, including a protective variant in the COL4A3 gene.

This paper develops a method to select tag SNPs for multi-ethnic association studies, showing improved imputation power by considering population-specific linkage disequilibrium and demographic impacts.

The paper defines functional equivalence standards for genome sequencing pipelines to enable harmonized variant calling across diverse datasets with minimal batch effects.

The paper analyzes rare variants to uncover mutation rate heterogeneity in the human genome, identifying genomic features that influence mutation rates.

This paper introduces SAIGE, a method that improves the accuracy of genetic association tests in unbalanced case-control studies by using saddlepoint approximation, and demonstrates its effectiveness on UK Biobank data.

This study identifies rare genetic variants associated with type 2 diabetes using exome sequencing of 20,791 cases and 24,440 controls, and provides a Bayesian framework to improve variant prioritization.

This study identifies 111 genetic loci and 163 risk variants associated with atrial fibrillation using a GWAS of over 1 million individuals.

emeraLD rapidly estimates linkage disequilibrium using sparsity and haplotype structure, improving efficiency for large genetic datasets.

This paper estimates narrow-sense heritability using identity-by-descent information in unrelated individuals and finds that IBD-based methods can capture rare variant contributions but are affected by stratification.

The paper introduces demuxlet, an algorithm that uses natural genetic variation to multiplex single-cell RNA-seq samples, enabling accurate sample identification and doublet detection in pooled experiments.

This study evaluates whether risk alleles or oligogenicity in 21 Mendelian nephrotic syndrome genes explain NS heritability, but finds no significant burden or unique combinations in NS patients compared to a reference population.